It was a nervous pregnancy, until week 17. At week 17, we had a Fetal ECHO done at Guys and St. Thomas Hospital in London to determine whether or not our baby's heart was okay. In May of 2000, I lost a baby girl to hypo-plastic left heart syndrome (unrelated to MPS) and there was a small risk of it happening again. Relieved, we left the hospital knowing our baby's heart was okay...we thought we were out of the woods...
At our 20 week scan, we discovered our baby was a girl!! After being convinced we were having a boy, we couldn't believe it when we were told they could see “girl parts”. We thought they were liars. We had both secretly wanted a girl, but when one of us asked the other if we had a preference for a boy or a girl, we each gave the politically correct answer “It doesn't matter as long as it's healthy”. Which of course, was true. We just both really wanted a little girl.
I waddled and complained and had nausea and generally had a typical pregnancy. Nothing suggested anything was wrong with our baby.
On Wednesday, the 7th of July, 2010, I went into labour. Big time. It came all at once and there was no break in contractions. I asked the midwife to let me die. Miya Aeris (pronounced Mia Iris) was born on 2350hrs on the 7th of July, 2010. Her name means “Increasingly Beautiful Rainbow” in Japanese, which is why we chose the Japanese spelling rather than the traditional spelling.
Miya was born with talipes in her right foot, and positional talipes in her left foot. We were told her left foot would straighten on her own but the right would need correction. Miya didn't feed well and we stayed an extra day in the hospital because of it. She didn't seem to want to suck and couldn't get her tongue in the right position for it. She was very floppy, and when I picked her up under her arms I was afraid her shoulders would come out of joint. Her face seemed very squished and her neck was very short. Her eyebrows were bushy and her eyes seemed puffy. Her breathing was noisy and Chris and I quickly stopped “rooming in” with her. We had to wear earplugs! I thought something was wrong, but I rationalized...after all, what kind of mother would I be if I took her to the doctor and said: “She doesn't look right. She's noisy when she breathes. She won't stop crying.”
For two weeks, Miya slept and ate (although it was a pain in the butt to try to feed her). At three weeks old, Miya woke up. She screamed and cried and developed silent reflux. She was put on Infant Gaviscon which made her constipated. She couldn't be in light of any kind. I was depressed. Chris and I took shifts to look after her...I'd take one night and he'd take the next. We were at our wit's end. We bought every gadget and gizmo to try to help her stop crying. Finally, we took her to a cranial osteopath who really seemed to help. Miya stopped crying so much!
In January 2011, Miya began the Ponseti Method of correction on her right foot. She was in a cast from her toes to her thigh for a week, then she had an operation called a tenotomy, to relase the tendon at the back of her ankle. It was the surgeon who asked me if anyone had ever approached me about the possibility that Miya may have a chomosomal disorder. I was shocked and a bit relieved. I wasn't crazy!! Someone else saw that something wasn't right.
On the 28th of February 2011, Miya was diagnosed with MPS 1H. (I had Googled her symptoms and came up with MPS...eventually....it was a small link on a page I was viewing about conditions that feature a large liver). I lost the ability to speak and breathe and stand upright. My knees buckled and a fought for breath. For a week, I couldn't look at my daughter. I was certain she was going to die.
That day seems like eons ago. Miya currently receives Aldurazyme infustions weekly to give her the enzyme her body lacks. The enzyme can't cross the blood-brain barrier so although it helps her body break down mucopolysaccharides in her lower body, they are still building up in her brain causing neurological and cognitive defect. She will be having a bone marrow transplant in about 2 weeks. In theory, the bone marrow transplant will enable Miya to produce her own enzyme, and have it work to break down mucopolysaccharides throughout her body, including her brain. She will still have problems with her skeleton, vision, and hearing. With the bone marrow transplant, we hope she will have "normal to near normal" intelligence.
Miya amazes me every day. She's smiley and charismatic. She's everything I admire and love. She's my increasingly beautiful rainbow.
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